Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs27044
rs27044
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.020 1.000 2 2019 2020
dbSNP: rs10454134
rs10454134
1 1.000 0.200 2 48420887 TF binding site variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs10515746
rs10515746
2 0.925 0.240 5 157109557 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12119179
rs12119179
2 0.925 0.200 1 67281732 downstream gene variant A/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1342326
rs1342326
9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4073153
rs4073153
3 1.000 0.200 9 136364897 non coding transcript exon variant A/G snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs4936742
rs4936742
2 0.925 0.200 11 122770378 intron variant T/C snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs10094579
rs10094579
6 0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs224127
rs224127
1 1.000 0.200 10 62701513 intron variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs428888
rs428888
2 0.925 0.240 1 161548496 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs7234029
rs7234029
7 0.807 0.320 18 12877061 intron variant A/G snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs913678
rs913678
6 0.882 0.240 20 50338887 regulatory region variant T/C snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs9316059
rs9316059
1 1.000 0.200 13 43912653 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12141431
rs12141431
1 1.000 0.200 1 67281340 downstream gene variant G/C snv 0.23 0.020 0.500 2 2017 2019
dbSNP: rs1234313
rs1234313
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs2903908
rs2903908
2 0.925 0.200 20 46065308 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs3914501
rs3914501
1 1.000 0.200 3 174846878 intron variant A/G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs4246905
rs4246905
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs7028891
rs7028891
2 0.925 0.280 9 114882735 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs9517723
rs9517723
2 0.925 0.200 13 99432425 non coding transcript exon variant T/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2016 2016